ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3397+5G>A (rs45501492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190074 SCV000243749 pathogenic not provided 2015-01-16 criteria provided, single submitter clinical testing c.3397+5 G>A: IVS29+5 G>A in intron 29 of the TSC2 gene (NM_000548.3) The c.3397+5 G>A splice site mutation in the TSC2 gene has been previously reported in association with tuberous sclerosis (TSC2 LOVD). This mutation destroys the natural splice donor site in intron 29, and is expected to cause abnormal gene splicing. The variant is found in TUBSC-EPIV2-1 panel(s).
Tuberous sclerosis database (TSC2) RCV000043341 SCV000067147 not provided Tuberous sclerosis syndrome no assertion provided curation

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